Canonical Allele Identifier: CA196783275

Gene: GABBR2

Linked Data

• ClinVar Variation Id: 446211
• ClinVar RCV Id: RCV000515463 ; RCV000590831 ; RCV001200540 ; RCV000622956 ; RCV001061069 ; RCV003392345
• dbSNP Id: rs922847767
• gnomAD v4: 9-98371535-C-T
• MyVariant Identifiers: chr9:g.101133817C>T (hg19) ; chr9:g.98371535C>T (hg38)
• PubMed: PMID:9872317 ; PMID:25262651 ; PMID:26740508 ; PMID:27541642 ; PMID:28135719 ; PMID:28856709 ; PMID:29100083

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98371535C>T , CM000671.2:g.98371535C>T	GRCh38
NC_000009.11:g.101133817C>T , CM000671.1:g.101133817C>T	GRCh37
NC_000009.10:g.100173638C>T	NCBI36
NG_016426.1:g.342663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1699G>A MANE Select	ENSP00000259455.2:p.Ala567Thr
ENST00000637410.1:n.1477G>A
ENST00000259455.3:c.1699G>A	ENSP00000259455.2:p.Ala567Thr
ENST00000634314.1:n.204G>A
ENST00000634457.1:c.37G>A	ENSP00000489352.1:p.Ala13Thr
ENST00000635462.1:n.194G>A
NM_005458.7:c.1699G>A	NP_005449.5:p.Ala567Thr
XM_005252316.3:c.925G>A	XP_005252373.1:p.Ala309Thr
XM_005252316.5:c.925G>A	XP_005252373.1:p.Ala309Thr
XM_017015331.2:c.1405G>A	XP_016870820.1:p.Ala469Thr
XM_017015332.2:c.925G>A	XP_016870821.1:p.Ala309Thr
NM_005458.8:c.1699G>A MANE Select	NP_005449.5:p.Ala567Thr